4,236 results match your criteria Adrenal Disease and Pregnancy


Management of Endocrinopathies in Pregnancy: A Review of Current Evidence.

Int J Environ Res Public Health 2019 Mar 4;16(5). Epub 2019 Mar 4.

Department of Obstetrics and Gynecology, Medical School, University of Crete, 71110 Heraklion, Crete, Greece.

Pregnancy in women with associated endocrine conditions is a therapeutic challenge for clinicians. These disorders may be common, such us thyroid disorders and diabetes, or rare, including adrenal and parathyroid disease and pituitary dysfunction. With the development of assisted reproductive techniques, the number of pregnancies with these conditions has increased. Read More

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http://dx.doi.org/10.3390/ijerph16050781DOI Listing
March 2019
2 Reads

Exacerbation of Cushing's syndrome during pregnancy: stimulation of a cortisol-secreting adrenocortical adenoma by ACTH originating from the foeto-placental unit.

Endocrinol Diabetes Metab Case Rep 2019 Feb 7;2019. Epub 2019 Feb 7.

A 29-year-old G4A3 woman presented at 25 weeks of pregnancy with progressive signs of Cushing's syndrome (CS), gestational diabetes requiring insulin and hypertension. A 3.4 × 3. Read More

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http://dx.doi.org/10.1530/EDM-18-0115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373782PMC
February 2019
3 Reads

[Cushing's syndrome during pregnancy : diagnostic and therapeutic difficulties].

Rev Med Liege 2018 Dec;73(12):603-609

Service d`Endocrinologie, CHU de Liège, Liège, Belgique.

Cushing's syndrome (CS), which is often associated with infertility, exceptionally occurs in pregnancy, and markedly increases maternal and fetal morbidity and mortality. Gestational CS may be challenging. Indeed, symptoms of hypercorticism may overlap with physiological hyperactivity of the hypothalamus-pituitary-adrenal axis in normal pregnancy. Read More

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December 2018
3 Reads

Gestational Stress Augments Postpartum β-Amyloid Pathology and Cognitive Decline in a Mouse Model of Alzheimer's Disease.

Cereb Cortex 2018 Oct 1. Epub 2018 Oct 1.

Department of Neuroscience, Canadian Centre for Behavioural Neuroscience (CCBN), University of Lethbridge, Lethbridge, AB, Canada.

Besides well-known risk factors for Alzheimer's disease (AD), stress, and in particular noise stress (NS), is a lifestyle risk factor common today. It is known that females are at a significantly greater risk of developing AD than males, and given that stress is a common adversity in females during pregnancy, we hypothesized that gestational noise exposure could exacerbate the postpartum development of the AD-like neuropathological changes during the life span. Pregnant APPNL-G-F/NL-G-F mice were randomly assigned to either the stress condition or control group. Read More

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http://dx.doi.org/10.1093/cercor/bhy251DOI Listing
October 2018
5 Reads

Primary hypophysitis and other autoimmune disorders of the sellar and suprasellar regions.

Rev Endocr Metab Disord 2018 12;19(4):335-347

Medicover GmbH, Berlin/Hannover, Germany.

The pituitary gland and the hypothalamus can be affected by autoimmune-mediated structural and functional disruption. These autoimmune-mediated diseases occur more commonly in females and are often found during pregnancy or in the post-partum period. Autoimmune diseases can either affect parts of the pituitary or hypothalamus, or can involve both sellar and suprasellar structures. Read More

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http://link.springer.com/10.1007/s11154-018-9480-1
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http://dx.doi.org/10.1007/s11154-018-9480-1DOI Listing
December 2018
15 Reads

Fetal distress and urgent cesarean delivery due to new-onset peripartum Crohn's disease.

Taiwan J Obstet Gynecol 2018 Dec;57(6):901-902

Department of Gastroenterology, Shaare Zedek Medical Center, Hebrew University Medical School of Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.tjog.2018.10.025DOI Listing
December 2018
2 Reads

Against the Odds.

Authors:
Emily M Bucholz

JAMA 2018 Dec;320(22):2313-2314

Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jama.2018.17821DOI Listing
December 2018
5 Reads

Glucocorticoid-activation system mediated glucocorticoid-insulin-like growth factor 1 (GC-IGF1) axis programming alteration of adrenal dysfunction induced by prenatal caffeine exposure.

Toxicol Lett 2019 Mar 6;302:7-17. Epub 2018 Dec 6.

Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071, China; Hubei Provincial Key Laboratory of Developmentally Originated Disorder, Wuhan 430071, China. Electronic address:

Glucocorticoids play a major factor in fetal maturation and fate decision after birth. We have previously demonstrated that prenatal caffeine exposure (PCE) resulted in adrenal dysplasia. However, its molecular mechanism has not been clarified. Read More

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http://dx.doi.org/10.1016/j.toxlet.2018.12.001DOI Listing
March 2019
6 Reads

Excitotoxicity and compensatory upregulation of GAD67 in fetal rat hippocampus caused by prenatal nicotine exposure are associated with inhibition of the BDNF pathway.

Food Chem Toxicol 2019 Jan 30;123:314-325. Epub 2018 Oct 30.

Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071, China; Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071, China. Electronic address:

Prenatal nicotine exposure (PNE) can cause hypersensitivity of hypothalamic-pituitary-adrenal (HPA) axis in offspring with intrauterine growth retardation. The purpose of this study was to explore the original mechanism of intrauterine development that mediates hypersensitivity of the HPA axis in offspring due to PNE. Pregnant Wistar rats were injected subcutaneously with 2 mg/kg·d of nicotine on the 9th to the 20th gestational day (GD9-GD20) and the fetuses were extracted at GD20. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S02786915183080
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http://dx.doi.org/10.1016/j.fct.2018.10.062DOI Listing
January 2019
10 Reads

Surgery for Cushing's disease in pregnancy: our experience and a literature review.

Ann R Coll Surg Engl 2019 Jan 5;101(1):e26-e31. Epub 2018 Oct 5.

Department of Endocrinology, University Hospital Birmingham , Birmingham , UK.

Cushing's syndrome in pregnancy is a rare phenomenon and there is limited literature on its management. Cushing's disease in pregnancy is even less common and there is little guidance to help in the treatment for this patient group. Diagnosis of Cushing's syndrome in pregnancy is often delayed due to overlap of symptoms. Read More

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http://dx.doi.org/10.1308/rcsann.2018.0175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303815PMC
January 2019
16 Reads

Does Urinary Tract Ultrasound Have Its Place in the Treatment of Early Neonatal Jaundice? Neonatal Bilateral Adrenal Hemorrhage: Case Report.

Acta Clin Croat 2018 Mar;57(1):161-165

Department of Pediatrics, Sestre milosrdnice University Hospital Centre, Zagreb, Croatia.

Adrenal hemorrhage is a rare clinical entity in the neonatal period, with an incidence of 1.7-2.1/1000 births. Read More

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http://dx.doi.org/10.20471/acc.2018.57.01.21DOI Listing
March 2018
3 Reads

[Pheochromocytoma and pregnancy: About one case].

Gynecol Obstet Fertil Senol 2018 09 14;46(9):667-668. Epub 2018 Aug 14.

Pôle femme et enfant, service de gynécologie obstétrique, CHU Clermont-Ferrand, 1, place Lucie et Raymond Aubrac, 63003 Clermont-Ferrand cedex 1, France; Équipe « Translational approach to epithelial injury and repair », université Clermont Auvergne, CNRS, Inserm, GReD, 63000 Clermont-Ferrand, France. Electronic address:

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http://dx.doi.org/10.1016/j.gofs.2018.07.006DOI Listing
September 2018
1 Read

Gestational chronodisruption leads to persistent changes in the rat fetal and adult adrenal clock and function.

J Physiol 2018 Dec 17;596(23):5839-5857. Epub 2018 Sep 17.

Laboratorio de Cronobiología del Desarrollo, Instituto de Anatomía, Histología y Patología, Facultad de Medicina, Universidad Austral de Chile, Valdivia, Chile.

Key Points: Light at night is essential to a 24/7 society, but it has negative consequences on health. Basically, light at night induces an alteration of our biological clocks, known as chronodisruption, with effects even when this occurs during pregnancy. Here we explored the developmental impact of gestational chronodisruption (chronic photoperiod shift, CPS) on adult and fetal adrenal biorhythms and function. Read More

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http://dx.doi.org/10.1113/JP276083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265531PMC
December 2018
8 Reads
5.040 Impact Factor

Successful Management of Pheochromocytoma Detected in Pregnancy by Interval Adrenalectomy in a VHL Patient.

Case Rep Endocrinol 2018 19;2018:9014585. Epub 2018 Jul 19.

Colombo South Teaching Hospital, Kalubowila, Sri Lanka.

A 34-year-old mother with diabetes mellitus for 6 years presented in the late second trimester of her third pregnancy with new onset hypertension and characteristic hyperadrenergic spells. Clinical examination was unremarkable except a blood pressure of 170/110 mmhg. She had an elevated 24 hour urinary normetanephrine level with ultrasonic evidence of a hyperechoic hypervascular well-defined right supra renal mass of 6 x 5 cm in size which was very suggestive of a pheochromocytoma. Read More

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http://dx.doi.org/10.1155/2018/9014585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076903PMC
July 2018
5 Reads

Corticosteroids for preventing neonatal respiratory morbidity after elective caesarean section at term.

Cochrane Database Syst Rev 2018 08 3;8:CD006614. Epub 2018 Aug 3.

Second Department of Obstetrics and Gynaecology, Aristotle University of Thessaloniki, 92 Tsimiski Street, Thessaloniki, Greece, 546 22.

Background: Infants born at term by elective caesarean section are more likely to develop respiratory morbidity than infants born vaginally. Prophylactic corticosteroids in singleton preterm pregnancies accelerate lung maturation and reduce the incidence of respiratory complications.

Objectives: The objective of this review was to assess the effect of prophylactic corticosteroid administration before elective caesarean section at term, as compared to usual management without corticosteroids, in reducing neonatal respiratory morbidity and admission to special care with respiratory complications. Read More

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http://dx.doi.org/10.1002/14651858.CD006614.pub3DOI Listing
August 2018
51 Reads

Programming Bugs: Microbiota and the Developmental Origins of Brain Health and Disease.

Biol Psychiatry 2019 Jan 27;85(2):150-163. Epub 2018 Jun 27.

APC Microbiome Ireland, University College Cork, Cork, Ireland; Department of Anatomy and Neuroscience, University College Cork, Cork, Ireland. Electronic address:

It has been nearly 30 years since Dr. David Barker first highlighted the importance of prenatal factors in contributing to the developmental origins of adult disease. This concept was later broadened to include postnatal events. Read More

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http://dx.doi.org/10.1016/j.biopsych.2018.06.014DOI Listing
January 2019
28 Reads

Developmental origins of the human hypothalamic-pituitary-adrenal axis.

Expert Rev Endocrinol Metab 2017 09 2;12(5):321-339. Epub 2017 Aug 2.

a Department of Psychiatry and Human Behavior , University of California , Irvine , CA , USA.

Introduction: The developmental origins of disease or fetal programming model predicts that intrauterine exposures have life long consequences for physical and psychological health. Prenatal programming of the fetal hypothalamic-pituitary-adrenal (HPA) axis is proposed as a primary mechanism by which early experiences are linked to later disease risk. Areas covered: This review describes the development of the fetal HPA axis, which is determined by an intricately timed cascade of endocrine events during gestation and is regulated by an integrated maternal-placental-fetal steroidogenic unit. Read More

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http://dx.doi.org/10.1080/17446651.2017.1356222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334849PMC
September 2017
3 Reads

[A case of pheochromocytoma discovered during a twin pregnancy: a diagnosis not to be misunderstood and literature review].

Pan Afr Med J 2018 23;29:168. Epub 2018 Mar 23.

Service d'Endocrinologie, Diabétologie et Maladies Métaboliques, Hôpital Arrazi, CHU Mohammed VI, Laboratoire de Recherche de Pneumo-Cardio-Immunopathologie et Métabolisme (PCIM), Faculté de Médecine et de Pharmacie de Marrakech, Université Cadi Ayad, Marrakech, Maroc.

The pheochromocytoma is a rare, but potentially serious, which can be revealed by pregnancy. Less than 250 cases described in the literature .The rarity of this association and similarity with pregnancy-induced hypertension explains the frequency of unknown diagnoses during pregnancy. Read More

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http://dx.doi.org/10.11604/pamj.2018.29.168.13901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057585PMC
August 2018
4 Reads

Sex differences in major depression and comorbidity of cardiometabolic disorders: impact of prenatal stress and immune exposures.

Neuropsychopharmacology 2019 01 7;44(1):59-70. Epub 2018 Jul 7.

Department of Basic Medical Science, University of Arizona College of Medicine - Phoenix, Phoenix, AZ, 85004, USA.

Major depressive disorder topped ischemic heart disease as the number one cause of disability worldwide in 2012, and women have twice the risk of men. Further, the comorbidity of depression and cardiometabolic disorders will be one of the primary causes of disability worldwide by 2020, with women at twice the risk. Thus, understanding the sex-dependent comorbidities has public health consequences worldwide. Read More

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http://dx.doi.org/10.1038/s41386-018-0146-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235859PMC
January 2019
8 Reads

Dehydroepiandrosterone Research: Past, Current, and Future.

Vitam Horm 2018 16;108:1-28. Epub 2018 Mar 16.

Department of Biochemistry and Molecular Genetics, Center for Genetics and Molecular Medicine, University of Louisville School of Medicine, Louisville, KY, United States. Electronic address:

The discovery of "oestrus-producing" hormones was a major research breakthrough in biochemistry and pharmacology during the early part of the 20th century. The elucidation of the molecular weight and chemical structure of major oxidative metabolites of dehydroepiandrosterone (DHEA) led to the award of the Nobel Prize in 1939 to Adolf Frederick Johann Butenandt and Leopold Ruzicka. Considered a bulk androgen in the circulation, DHEA and its sulfated metabolite DHEA-S can be taken up by most tissues where the sterols are metabolized to active androgenic and estrogenic compounds needed for growth and development. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00836729183003
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http://dx.doi.org/10.1016/bs.vh.2018.02.002DOI Listing
November 2018
38 Reads

Clinical and Etiological Aspects of Gynecomastia in Adult Males: A Multicenter Study.

Biomed Res Int 2018 29;2018:8364824. Epub 2018 May 29.

Servicio de Endocrinología, Metabolismo y Medicina Nuclear, Hospital Italiano, Buenos Aires, Argentina.

Objectives: To evaluate the characteristics of presentation, biochemical profile, and etiology of gynecomastia in adults.

Methods: Medical records of 237 men aged 18-85 years with gynecomastia were evaluated.

Results: Highest prevalence of gynecomastia was observed between 21 and 30 years (n = 74; 31. Read More

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http://dx.doi.org/10.1155/2018/8364824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996435PMC
January 2019
31 Reads

Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening.

Clin Diabetes Endocrinol 2018 22;4:15. Epub 2018 Jun 22.

2Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Health System, Medical Science Research Building II, Office # 2560e, 1150 West Medical Center Drive, Ann Arbor, MI 48109 USA.

Background: Pheochromocytomas and Paragangliomas (PCC/PGL) are rare endocrine tumors that are mostly benign, but often hormone producing, causing significant morbidity and mortality due to excess catecholamine secretion and cardiovascular crises. It is estimated that 30% of PCC/PGL are due to germline mutations, including Neurofibromatosis type 1 (). There is little published data describing the phenotype of NF1-associated PCC/PGL and there are no established recommendations for PCC/PGL screening in NF1. Read More

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http://dx.doi.org/10.1186/s40842-018-0065-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013983PMC
June 2018
9 Reads

Placental H3K27me3 establishes female resilience to prenatal insults.

Nat Commun 2018 07 2;9(1):2555. Epub 2018 Jul 2.

Department of Pharmacology, University of Maryland School of Medicine Health Sciences Facility, III 670 W. Baltimore Street, Baltimore, MD, 21201, USA.

Although sex biases in disease presentation are well documented, the mechanisms mediating vulnerability or resilience to diseases are unknown. In utero insults are more likely to produce detrimental health outcomes for males versus females. In our mouse model of prenatal stress, male offspring experience long-term dysregulation of body weight and hypothalamic pituitary adrenal stress axis dysfunction, endophenotypes of male-biased neurodevelopmental disorders. Read More

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http://dx.doi.org/10.1038/s41467-018-04992-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028627PMC
July 2018
9 Reads

Syncope caused by complete heart block and ventricular arrhythmia as early manifestation of systemic lupus erythematosus in a pregnant patient: a case report.

Lupus 2018 Sep 28;27(10):1729-1731. Epub 2018 Jun 28.

1 Division of Cardiology, Department of Internal Medicine, Chung Shan Medical University Hospital, Taichung City, Taiwan.

Systemic lupus erythematosus (SLE) can affect all heart structures including the conduction system, with either reversible or permanent derangement. However, only a few cases of adult SLE and complete atrioventricular (AV) block have been reported. We describe a young pregnant woman who initially presented with complete AV block on electrocardiography before the diagnosis of SLE. Read More

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http://dx.doi.org/10.1177/0961203318782425DOI Listing
September 2018
1 Read

Trelegy Ellipta--a three-drug inhaler for COPD.

Authors:

Med Lett Drugs Ther 2018 05;60(1547):86-88

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May 2018
17 Reads

Successful management of a third-trimester pregnancy complicated by pheochromocytoma: case report.

Gynecol Endocrinol 2018 Dec 12;34(12):1016-1018. Epub 2018 Jun 12.

b Department of Neuroscience, Reproductive Sciences and Dentistry , University of Naples Federico II , Naples , Italy.

Pheochromocytoma (PH) is a tumor that arises from chromaffin cells of the adrenal medulla. Though being this benign neoplasm very rare in pregnancies, lack of treatment nevertheless causes high mortality rates for both the mother and the fetus. Classic symptoms related to PH are hypertension, abdominal pain, diaphoresis, and headache; but it can be easily misdiagnosed as gestational hypertension or preeclampsia. Read More

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http://dx.doi.org/10.1080/09513590.2018.1480712DOI Listing
December 2018
23 Reads

Early-Life Stress: From Neuroendocrine Mechanisms to Stress-Related Disorders.

Horm Res Paediatr 2018 8;89(5):372-379. Epub 2018 Jun 8.

Stress exposure is highly prevalent in the general population; however, the experience of stress during vulnerable periods of development has substantial and permanent effects on brain structure and function and physical health in adulthood. Stress, the state of threatened homeostasis, is generally associated with a time-limited activation of the stress system, i.e. Read More

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http://dx.doi.org/10.1159/000488468DOI Listing
October 2018
13 Reads

An Ω-3 fatty acid-deficient diet during gestation induces depressive-like behavior in rats: the role of the hypothalamo-pituitary-adrenal (HPA) system.

Food Funct 2018 Jun;9(6):3481-3488

Institute of Clinical Pharmacy & Pharmacology, Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, PR China.

Low intake of omega-3 (Ω-3) polyunsaturated fatty acids (PUFAs) especially docosahexaenoic acid (DHA) is associated with postpartum depression. DHA deficiency is accompanied by impaired attention and cognition, and will precipitate psychiatric symptoms. However, the effects of dietary DHA on postpartum depression remain unclear. Read More

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http://dx.doi.org/10.1039/c7fo01714fDOI Listing
June 2018
15 Reads

Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.

Forensic Sci Med Pathol 2018 09 8;14(3):367-371. Epub 2018 Jun 8.

Section of Forensic Pediatric Medicine, Clinic of Laboratory Medicine, Oslo University Hospital, Oslo, Norway.

We report a case of a woman who experienced intrauterine fetal death at full term pregnancy, and then died suddenly soon after learning about the death of her fetus. At autopsy, previously undiagnosed neurofibromatosis and an adrenal gland pheochromocytoma were discovered in the mother. Genetic screening also revealed a novel KCNH2mutation in both fetus and mother indicating type 2 congenital long-QT syndrome (LQTS). Read More

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http://dx.doi.org/10.1007/s12024-018-9989-3DOI Listing
September 2018
3 Reads

The Hypothalamic-Pituitary-Adrenal Axis and the Fetus.

Horm Res Paediatr 2018 6;89(5):380-387. Epub 2018 Jun 6.

Division of Pediatric Endocrinology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Glucocorticoids (GCs), cortisol in humans, influence multiple essential maturational events during gestation. In the human fetus, fetal hypothalamic-pituitary-adrenal (HPA) axis function, fetal adrenal steroidogenesis, placental 11β- hydroxysteroid dehydrogenase type 2 activity, maternal cortisol concentrations, and environmental factors impact fetal cortisol exposure. The beneficial effects of synthetic glucocorticoids (sGCs), such as dexamethasone and betamethasone, on fetal lung maturation have significantly shifted the management of preterm labor and threatened preterm birth. Read More

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http://dx.doi.org/10.1159/000488106DOI Listing
October 2018
4 Reads

Hyperkalaemic periodic paralysis in pregnancy.

BMJ Case Rep 2018 Jun 4;2018. Epub 2018 Jun 4.

Department of Obstetrics and Gynaecology, Sarikei Hospital, Sarikei, Sarawak, Malaysia.

Hyperkalaemic periodic paralysis is a rare skeletal muscle disorder which is characterised by episodic muscle paralysis associated with hyperkalaemia. Although it is an autosomal-dominant disease, cases of de novo mutations have been reported. We report the case of a 30-year-old woman, gravida 5 para 3+1, who was planned for an elective repeated caesarean section at 38 weeks and 3 days of pregnancy. Read More

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http://dx.doi.org/10.1136/bcr-2017-223588DOI Listing
June 2018
22 Reads

Maternal hypothalamus-pituitary-adrenal (HPA) system activity and stress during pregnancy: Effects on gestational age and infant's anthropometric measures at birth.

Psychoneuroendocrinology 2018 08 22;94:152-161. Epub 2018 Apr 22.

Department of Psychiatry and Psychotherapy, RG Stress, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Germany.

Background: Prenatal maternal stress might be a risk for the developing fetus and may have long-lasting effects on child and adult vulnerability to somatic and psychiatric disease. Over-exposure of the unborn to excess glucocorticoids and subsequent alteration of fetal development is hypothesized to be one of the key mechanisms linking prenatal stress with negative child outcome.

Methods: In this prospective longitudinal study, mothers-to-be (n = 405) in late pregnancy (36. Read More

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http://dx.doi.org/10.1016/j.psyneuen.2018.04.022DOI Listing
August 2018
5 Reads

Urticarial Lesions in a Pregnant Woman.

Acta Dermatovenerol Croat 2018 Apr;26(1):71-72

Sergio Santos-Alarcon, MD, Department of Dermatology, , Hospital Universitario Doctor Peset, Avinguda Gaspar Aguilar Nº 90, 4601 Valencia, Spain;

Dear Editor, Gestational pemphigoid (GP) is a rare autoimmune bullous dermatosis in pregnancy. GP usually occurs during the second or third month of pregnancy. It clinically manifests as the development of either early-onset urticarial lesions or late-onset subepidermal blisters that may linger for weeks or even months. Read More

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April 2018
8 Reads

Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.

Clin Chem 2018 Jul 14;64(7):1063-1073. Epub 2018 May 14.

Counsyl, Inc., South San Francisco, CA.

Background: By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends on the number of conditions tested, the prevalence of the respective diseases, and the screen's analytical sensitivity for identifying disease-causing variants. Disease-level analytical sensitivity is often <100% in ECS tests because copy number variants (CNVs) are typically not interrogated because of their technical complexity. Read More

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http://dx.doi.org/10.1373/clinchem.2018.286823DOI Listing
July 2018
9 Reads

Pregnancy in Patients with Cushing's Syndrome.

Endocrinol Metab Clin North Am 2018 06;47(2):441-449

Neuroendocrine Unit, Division of Endocrinology and Metabolism, Hospital das Clínicas, University of São Paulo Medical School, Avenida Enéas de Carvalho Aguiar, n° 155, 8° andar, bloco 03, São Paulo, São Paulo 05403-000, Brazil. Electronic address:

Progress in diagnosis and treatment of endocrine diseases has made pregnancy possible for women with endocrinopathies, including Cushing's syndrome (CS). The risk of maternal-fetal complications in patients who are not biochemically controlled, however, is substantial. Therefore, the surgical and/or medical control of hypercortisolism is mandatory prior to conceiving. Read More

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http://dx.doi.org/10.1016/j.ecl.2018.02.004DOI Listing
June 2018
8 Reads

Diagnosis of Cushing's Syndrome in the Modern Era.

Endocrinol Metab Clin North Am 2018 06;47(2):259-273

Diabetes, Endocrine, and Obesity Branch, The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health, Building 10, CRC, 1 East, Room 1-3140, 10 Center Drive, MSC 1109, Bethesda, MD 20892-1109, USA. Electronic address:

Four challenges complicate the evaluation for Cushing syndrome. These challenges include increasing global prevalence of obesity and diabetes; increasing use of exogenous glucocorticoids, which cause a Cushing syndrome phenotype; the confusion caused by nonpathologic hypercortisolism not associated with Cushing syndrome, which may present with symptoms consistent with Cushing syndrome; and difficulty identifying pathologic hypercortisolism when it is extremely mild or cyclic or in renal failure, incidental adrenal masses, and pregnancy. Careful choice of screening tests, consideration of confounding conditions, and repeated testing when the results are ambiguous improve the accuracy of diagnosis. Read More

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http://dx.doi.org/10.1016/j.ecl.2018.02.001DOI Listing
June 2018
9 Reads

Prenatal Treatment of Congenital Adrenal Hyperplasia: Long-Term Effects of Excess Glucocorticoid Exposure.

Horm Res Paediatr 2018 9;89(5):362-371. Epub 2018 May 9.

Prenatal treatment of congenital adrenal hyperplasia with dexamethasone (DEX) has been in use since the mid-1980s and has proven effective at reducing virilization of external genitalia in affected girls. However, multiple experimental studies on animals and clinical studies on humans show that prenatal administration of glucocorticoids may cause unwanted adverse effects which have raised concerns about the long-term safety of the treatment. The long-term outcome of prenatal DEX treatment on cognition has been investigated, but the results are still conflicting. Read More

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http://dx.doi.org/10.1159/000485100DOI Listing
October 2018
6 Reads

Gestational Hypoxia and Developmental Plasticity.

Physiol Rev 2018 07;98(3):1241-1334

The Lawrence D. Longo, MD Center for Perinatal Biology, Department of Basic Sciences, Loma Linda University School of Medicine , Loma Linda, California.

Hypoxia is one of the most common and severe challenges to the maintenance of homeostasis. Oxygen sensing is a property of all tissues, and the response to hypoxia is multidimensional involving complicated intracellular networks concerned with the transduction of hypoxia-induced responses. Of all the stresses to which the fetus and newborn infant are subjected, perhaps the most important and clinically relevant is that of hypoxia. Read More

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http://dx.doi.org/10.1152/physrev.00043.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6088145PMC
July 2018
3 Reads

A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.

J Pediatr Hematol Oncol 2018 Apr 26. Epub 2018 Apr 26.

Departments of Pediatrics B.

Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001192DOI Listing
April 2018
13 Reads

MAGED2: a novel form of antenatal Bartter's syndrome.

Curr Opin Nephrol Hypertens 2018 07;27(4):323-328

INSERM/UPMC/CNRS-U1138, ERL8228, Team 3, Paris Cedex 06, France.

Purpose Of Review: Antenatal Bartter's syndrome (aBS) is the most severe form of Bartter's syndrome, requiring close follow-up, in particular during the neonatal period, primarily because of prematurity. The recent identification of a novel and very severe form of aBS merits an update on this topic.

Recent Finding: Despite the identification of several genes involved in Bartter's syndrome, about 20% of patients clinically diagnosed with aBS remained without genetic explanation for decades. Read More

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http://dx.doi.org/10.1097/MNH.0000000000000422DOI Listing
July 2018
5 Reads

Treatment of Addison's disease during pregnancy.

Endocrinol Diabetes Metab Case Rep 2018 12;2018. Epub 2018 Apr 12.

Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Center, Coimbra, Portugal.

Addison's disease, or primary adrenocortical insufficiency, is a long-term, potentially severe, rare endocrine disorder. In pregnancy, it is even rarer. We report the case of a 30-year-old pregnant patient with Addison's disease, referred to Obstetrics-Endocrinology specialty consult at 14 weeks gestation. Read More

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http://dx.doi.org/10.1530/EDM-17-0179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900459PMC
April 2018
7 Reads

Aromatase Deficiency due to a Novel Mutation in Gene

J Clin Res Pediatr Endocrinol 2018 11 19;10(4):377-381. Epub 2018 Mar 19.

Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Turkey

Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens. Read More

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http://dx.doi.org/10.4274/jcrpe.0011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280327PMC
November 2018
9 Reads

Prenatal dexamethasone treatment in the context of at risk CAH pregnancies: Long-term behavioral and cognitive outcome.

Psychoneuroendocrinology 2018 05 1;91:68-74. Epub 2018 Mar 1.

Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, SE-171 76 Stockholm, Sweden. Electronic address:

Dexamethasone (DEX) is used to prevent prenatal virilization in female fetuses with congenital adrenal hyperplasia (CAH). Since treatment has to be started before the genotype of the fetus is known, 7 out of 8 fetuses will be exposed to DEX without benefit. Previously, we have observed negative effects on cognition and behavior in DEX treated children. Read More

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http://dx.doi.org/10.1016/j.psyneuen.2018.02.033DOI Listing
May 2018
3 Reads

MANAGEMENT OF ENDOCRINE DISEASE: Management of Cushing's syndrome during pregnancy: solved and unsolved questions.

Eur J Endocrinol 2018 Jun 9;178(6):R259-R266. Epub 2018 Mar 9.

Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Marseille, France.

With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or hypokalemia, while plasma cortisol and urinary free cortisol may rise up to 2- to 3-fold. While the dexamethasone suppression test is difficult to use, reference values for salivary cortisol appear valid. Read More

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http://dx.doi.org/10.1530/EJE-17-1058DOI Listing
June 2018
23 Reads

Pyoderma Gangrenosum of the Scalp: A Rare Clinical Variant.

Wounds 2018 Feb;30(2):E16-E20

Oregon Health & Sciences University, Department of Dermatology, Portland, OR.

Pyoderma gangrenosum (PG) is a rare, neutrophil-predominant dermatosis that usually presents as a papule or pustule and progresses into a painful ulcer. Clinical and histopathological features are nonspecific, making PG a challenging condition to diagnose. Lesions may occur anywhere on the body; however, the lower extremity is the most common location. Read More

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February 2018
9 Reads
0.701 Impact Factor

Acute pituitary disease in pregnancy: how to handle hypophysitis and Sheehan's syndrome.

Minerva Endocrinol 2018 Dec 19;43(4):465-475. Epub 2018 Feb 19.

Department of Neurosurgery, University of Tübingen, Tübingen, Germany.

Pregnancy-related hypophysitis (PR-Hy) that typically occurs during late pregnancy and the early postpartum period is considered an autoimmune disorder. Knowledge and awareness of characteristic clinical symptoms and specific endocrine and neuroradiological features mostly enables a correct diagnosis and guarantees best possible management. In the presence of mild clinical symptoms, a "wait-and-watch" approach is recommended. Read More

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http://dx.doi.org/10.23736/S0391-1977.18.02814-6DOI Listing
December 2018
2 Reads

Cushing's disease: major difficulties in diagnosis and management during pregnancy.

Minerva Endocrinol 2018 Dec 13;43(4):435-445. Epub 2018 Feb 13.

Department of Endocrinology, Sant Pau Hospital, Barcelona, Spain -

Pregnancy in women with a diagnosis of Cushing' syndrome (CS) is an extremely rare event and its diagnosis and treatment are a real medical challenge. During pregnancy, the hypothalamus-pituitary-adrenal axis undergoes major changes leading to a significant increase in plasma cortisol levels throughout gestation. The difficulties in diagnosis are related to the resemblance of symptoms of CS and those of pregnancy, and to the complex interpretation of the screening tests. Read More

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http://dx.doi.org/10.23736/S0391-1977.18.02803-1DOI Listing
December 2018
5 Reads
1.320 Impact Factor

A rare presentation of pheochromocytoma in pregnancy: a case report.

J Med Case Rep 2018 Feb 9;12(1):37. Epub 2018 Feb 9.

Obstetrics and Gynecology Department, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: Early diagnosis of pheochromocytoma and its proper management can lessen its mortality and morbidity. This case report describes a 24-year-old pregnant woman with an unusual presentation of pheochromocytoma.

Case Presentation: An Iranian 24-year-old primigravid woman from Kordistan province was referred to our center with left flank pain at 37 weeks of gestation. Read More

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http://dx.doi.org/10.1186/s13256-017-1549-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806440PMC
February 2018
9 Reads